ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln)
NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser)	rs1831267496

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